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Respiratory system involvement in Costello syndrome
Natalia Gomez-Ospina1, Christin Kuo2, Amitha Lakshmi Ananth1
1Division of Medical Genetics, Stanford University School of Medicine, Stanford, California.
American Journal of Medical Genetics. Part A
|April 23, 2016
Summary
Costello syndrome (CS), a disorder from HRAS mutations, frequently causes respiratory issues, especially in newborns. Early respiratory assessment and management plans are crucial for affected individuals, particularly those with rare mutations.
Area of Science:
- Genetics
- Pediatrics
- Pulmonology
Background:
- Costello syndrome (CS) is a multisystem disorder linked to HRAS gene mutations.
- Respiratory complications are known in CS but lack comprehensive data.
- This study details respiratory issues in CS patients.
Purpose of the Study:
- To describe the spectrum and incidence of respiratory symptoms in Costello syndrome patients.
- To analyze the relationship between HRAS mutations and respiratory phenotypes.
- To inform clinical management and anticipatory guidance.
Main Methods:
- Case report of four CS patients with respiratory complications.
- Literature review of 56 neonatal and 17 childhood/adult CS cases.
- Analysis of HRAS mutation types and associated respiratory outcomes.
Main Results:
- Approximately 78% of neonates with CS experience respiratory complications.
- Upper airway obstruction is more common in childhood/adulthood (71%).
- The p.Gly12Ser mutation is linked to transient distress, while rare mutations correlate with respiratory failure.
Conclusions:
- High incidence of neonatal respiratory complications in CS necessitates proactive management plans.
- Rarer HRAS mutations may indicate higher risk for severe respiratory issues.
- Consider otorhinolaryngological evaluation and sleep studies due to frequent airway obstruction.
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